- Head appears large in relation to the trunk.
- Small lower jaw.
- Narrow chest.
- Protuberant abdomen.
- Mutation analysis of the DDST gene identifies the following: point mutations, deletions leading to premature stop codons, substitutions or deletions of amino acids within transmembrane domains, substitutions of amino acids in intracellular or extracellular domains, and presumed mutations lying outside the coding region but causing low mRNA levels.Several mutations of the DDST gene have been reported in patients with type IB (the most severe form), patients with atelosteogenesis type II (an intermediate form), and patients with diastrophic dysplasia (the mildest form).Mutation analysis can be used to ascertain carriers, particularly in consanguineous families. However, biochemical analysis of fibroblast cultures has not been able to distinguish heterozygotes from normal homozygotes.
- Mutation analysis of the COL2A1 gene detects a single base change that has been observed in a patient with achondrogenesis type II in the type II procollagen gene (ie, substitution of serine for glycine in the alpha 1 [II] chain).
According to a new study, performed by the French scientists, people who eat a lot of fruit and vegetables have up to 30% less risk to experience the severe symptoms of asthma. For their research, a team of scientists studied approximately 35,000 people comparing...
A human immune system consists of various cells, tissues, and proteins. In the system, they carry out the processes in our body that fight with pathogens — viruses, bacteria, and foreign bodies. When a pathogen comes into contact with the immune system, the latter...
We all know that doing sports is very important, both for health and for a beautiful body. But at the moment when we decide to finally take the path of correction, we are faced with the question: what kind of sport is right for me? So, let's start with the fact that a...read more
Pranayama is not just a complex of breathing exercises. It is a complex process, during which a person receives vital energy - prana from the air. Literally pranayama is translated as "stopping breathing". Hence the main goal of the whole breathing gymnastics is to be...read more
Experts often advise people as suitable trainings to climb stairs, rather than use the elevator. And here are 6 reasons why we should do this regularly. Classes on the treadmill or with the ellipsoid simulator in daily mode seem too boring. They can be replaced by a...read more